Sunday, March 14, 2010

Medical Mystery

Well Addy seems to be on the up and up from our scary experience 2 weeks ago. We are awaiting an MRI of her brain this Thursday. She will have to be sedated for it because it requires lying still for 45 minutes. Hoping that it might bring about some answers, but at the same time praying for it to be normal. After another conversation with her pediatrician, she mentioned that it was possible that Addy had an undetected infection that could have swelled her brain, particularly in the speech processing area. The swelling could have been enough to bring on the seizure and the speech issues, while the infection could have been the cause for the fever, thirstiness, tiredness, etc. It definitely makes sense, but we may never know.

The odd part about the speech is that by last Friday, the stuttering had all but ceased. I might have heard it slightly here and there, but nothing real noticeable. Each day that went by since the last time we ended up in the hospital, we noticed it seemed to get better. That is puzzling. But, the infection and swelling of the brain scenario would make sense. Until today.....the stuttering is back! We just can't seem to figure this out.

And the medical mystery continues.............

This week I took Addison to see a new doctor. I had this appointment scheduled since last year. Dr. Dabrowski (Physical Medicine and Rehabilitation doc) was a doctor that I had wanted to see since Addy was born and we were seeking out some answers. However, he's a very difficult doctor to get in to and at the time I was impatient, wanted answers and didn't want to wait to get it to see him. So, we took a different route. Now, after almost three years, I decided it was time and I was going to wait as long as I needed to.

The thing about Dr. Dabrowski is that not only is he an awsome doctor, but he loves mystery cases and he will do whatever it takes to find the answers. Many of the students in my classroom have seen him over the years and he has helped to diagnose many of them, even some of the most difficult cases.

I left the appointment just kicking myself for not seeing him sooner. I have always had this nagging feeling ever sense Addy was diagnosed with Arthrogryposis, that maybe, just maybe it wasn't the right diagnosis and how will we ever know? Dr. Dabrowski is very intrigued with Addy and is going to work hard to seek out right answer.

At this point, he is not saying that she doesn't have Arthrogryposis as she does have many features that are Arthrogrypodic looking, but he feels like there could be more. At first glance he feels that whatever she has is a syndrome or condition driven by the central nervous system or spinal driven. He was a little baffled that numerous tests such as a spinal MRI or a full look at her body had never been done. He was thrilled that we will be seeing neurology in early April, because he feels like neurology might be the key player in figuring out what is going on. Some of the syndromes he is looking at are: osteogenesis imperfecta, sprengels syndrome, skeletal dysplagia, congenital anomaly, developmental delay, hypotonia. Several of these terms are very broad, but he listed everything that he felt could end up being a term to describe what is going on.

So, our next step is a full spinal MRI at the end of the month as well as a skeletal survey. The spinal MRI will take an hour and a half and so is was not possible to have it done on the same day as the brain MRI as they don't like to keep kids sedated for that long. The skeletal survey will be done this Thursday following the MRI of the brain. We will then follow up with neurology in April and we will see Dr. Dabrowski back in June.

I am excited about this, but also nervous at the same time. Excited that we might discover some more answers, but scared about what exactly those answers might be. And again I kick myself for waiting so long. I am hoping and praying that this baby growing inside of me will not carry on any of what these answers might possibly be. Since many of them very well could be genetic.

Speaking of genetic, we have a visit with genetics this week and Dr. Dabrowski was going to talk with our geneticist ahead of time about some of these syndromes for another opinion when we go. Lots going on lately and my head is spinning just trying to remember and keep it all straight.

Also in the meantime, Dr. Dabrowski would like Addy to be fitted for a DMO (dynamic movement orthosis). This will be a very tight fitting suit that can be snugged up in the areas in which Addy needs the most support. Mainly for her it will be in her shoulder and trunk area. This suit will be worn under her clothes. It is very new and currently is being made in England and Dr. Dabrowski is working very closely with those who invented it. The only downfall is that it makes you sweat a lot. Addy has always been a sweater since the day she was born, so we will see how this goes with summer on the way.

Aside from everything else that has been going on, Addy got her new orthopedic stroller this week. She has just about outgrown the toddler stroller she has and we knew that she was going to need something long term for distances. I also needed a stroller that I could transport the walker on so when we go places, Addy will have both means of mobility. The stroller has tie downs as well should she ever need it on the bus when she goes off to school next year. She was very excited about it and so far on our one excursion out to the mall it seemed to work well. Here are some pics. I will continue to keep everyone updated as we get answers.

3 comments:

Hi, I am Sage's mom from the AMC group. I have been keeping up with y'all for a while now, and just wanted to say I hope you get things figured out with Addy. I am sure these episodes she has had have scared you to death! Sage has had some similar things happen(without the stuttering), and it is scary.Addy is such a cutie, and I love her new stroller! I may need to check into something like that for Sage. She has a Kaye also, but they get tuckered out after long distances:)Hope you get some definite answers soon!

Hello Addison, Your new Wheels are so cool! I bet you really feel like a big girl now. We continue to pray for you everyday and know that Jesus loves you and is holding on to your hand through every test you have to have. He will keep you safe. and you know what it is okay to tell your mommy or your daddy if you are afraid. they can take your hand and pray with you so you know Jesus is right there beside you the whole way. He promises never to leave us! And he loves little children very much!!! Hang in there little princess. You are such a special little lady..xoxoxoxoo Karyn

We got our DMO for Daniel through Dr. D also. You know how Daniel is, now that its starting to get warmer out he won't be able to wear it much. Of course I work up a sweat putting it on him as it is snug like a girdle!

I'm the wife to a great guy and a mother to a child with special needs. Follow our journey through life and the daily happenings of two daughters: Addison Christine, our oldest, who has a diagnosis of Arthrogryposis Multiplex Congenita, Klippel Feil Syndrome and a Seizure Disorder and Breslyn Anna, our youngest, just recently born into our family.